TY - JOUR 
A1 - Eynon, Nir
AU - Birk, Ruth
AU - Meckel, Yoav
AU - Lucía Mulas, Alejandro
AU - Nemet, Dan
AU - Eliakim, Alon
T1 - Physiological variables and mitochondrial-related genotypes of an athlete who excels in both short and long-distance running
Y1 - 2011
SN - 18728278
UR - http://hdl.handle.net/11268/472
AB - We report the athletic, physiological and mitochondrial-related genomic data of an Israeli endurance runner. He is holding the Israeli record in 10,000, 5000, 1500 and 800 m run, along with being one of the best Israeli 400 m runners. We tested the ACTN3 R577X, and six polymorphisms in the PPARGC1A-NRF-TFAM pathway genes. The case athlete was heterozygous for the ACTN3 R577X variation and had five out of six 'endurance-oriented' genotypes, scoring significantly high in endurance 'optimal' genotype profile. In conclusion, we suggest that the case athlete is favoured by polygenic profile that is more suitable for mitochondrial biogenesis, regardless of his good phenotypic accomplishments in short-term running events.
KW - Genética humana
LA - eng
ER -